Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, fifth finger clinodactyly, congenital heart, and genitourinary defects, in addition to intellectual disability, developmental delay, and hypotonia, but more distal deletions involving 4q34-qter may result in milder phenotypes. Here, we present a child with a mild dysmorphic syndrome, resulted of a duplication 2q34-qter and a deletion 4q35.2-qter inherited of his father. We report a child, who at birth presented hypotonia, dysmorphism, and bilateral cryptorchidism. At 2 years and 9 month of age he showed brachycephaly, narrow forehead, bilateral frontoparietal hypertrichosis, down slanting palpebral fissures, sparse eyebrows, sparse short eyelashes, hypertelorism, depressed nasal root, broad nasal bridge, bulbous nasal tip, prominent colummela, broad nasal ala, smooth filtrum, high arched palate, thin upper lips, and ears rotated backwards. He also showed telethelia, hypertrichosis from dorsal to the sacral region, hands with clinodactyly and hypoplasia of the terminal phalanx of the fifth finger, and broad thumbs, broad first toes, and right cryptorchidism. A chromosomal study revealed a karyotype 46,XY,der(4)t(2;4)(q34;q35.2), while an array comparative genomic hybridization showed a 31.12 Mb duplication of the chromosome 2q34-q37.3 and a 1.49 Mb deletion in the chromosome 4q35.2. To our knowledge, only four families with translocation t(2;4) have been reported, two of them involving t(2q;4q), but the breakpoints involved in our patient have not been previously observed. The genomic imbalance in this patient was a duplication of 318 genes of the region 2q34-q37.3 and a deletion of 7 genes of 4q35.2. We discuss difficulty to assign specific congenital abnormalities to these duplicated/deleted regions and include some cases with terminal deletions of 4q with normal or just mildly detectable phenotypic effects.

中文翻译：

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患有轻度畸形综合征和核型 46,XY,der(4)t(2;4)(q34;q35.2)pat 的儿童的 2q34-qter 三体性和 4q35.2-qter 三体性报告。

很少报道伴随的 2q3 三体性和 4q3 单体性。纯三体 2q3 与小头畸形、眼距过宽、耳朵低位、小颌畸形、内脏异常和生长迟缓有关。单体 4q3 包括多种畸形特征，例如颅骨形状异常、眼距过远、皮埃尔罗宾序列、鼻梁异常、第五指弯曲、先天性心脏和泌尿生殖系统缺陷，此外还有智力障碍、发育迟缓和肌张力减退，但涉及 4q34-qter 的更多远端缺失可能导致更温和的表型。在这里，我们介绍了一个患有轻度畸形综合征的孩子，这是他父亲遗传的 2q34-qter 重复和 4q35.2-qter 缺失的结果。我们报告了一名出生时出现肌张力减退、畸形和双侧隐睾的儿童。2岁9个月时出现短头畸形、前额狭窄、双侧额顶多毛症、下斜睑裂、稀疏眉毛、稀疏短睫毛、眼距过大、鼻根凹陷、鼻梁宽、鼻尖球状、鼻小柱突出、鼻宽ala，平滑的滤膜，高拱形的上颚，薄的上唇和向后旋转的耳朵。他还表现出远程上皮、从背侧到骶骨区域的多毛症、手有斜指和第五指末节指骨发育不全、拇指宽、第一脚趾宽和右侧隐睾。染色体研究显示核型 46,XY,der(4)t(2;4)(q34;q35.2)，而阵列比较基因组杂交显示染色体 2q34-q37.3 的 31.12 Mb 重复和 1.49染色体 4q35.2 中的 Mb 缺失。据我们所知，仅报告了 4 个具有 t(2;4) 易位的家族，其中两个涉及 t(2q;4q)，但之前未观察到涉及我们患者的断点。该患者的基因组失衡是 2q34-q37.3 区域的 318 个基因重复和 4q35.2 的 7 个基因缺失。我们讨论了将特定先天性异常分配给这些重复/缺失区域的困难，并包括一些具有正常或轻度可检测表型效应的 4q 末端缺失的病例。